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Key symptoms:

Hunter syndrome specialist information key symptoms coarse facial features green half face

Coarse facial features2

Hunter syndrome specialist information key symptoms umbilical hernias green body organs

Umbilical and
inguinal hernias2

Hunter syndrome specialist information key symptoms skeletal problems green bones

Skeletal and joint problems (dysostosis multiplex)2

Hunter syndrome specialist information key symptoms otitis media green ear

Recurrent otitis

Hunter syndrome specialist information key symptoms hepatosplenomegaly organs green


Hunter syndrome specialist information key symptoms carpal tunnel syndrome green hand

Carpal tunnel

Hunter syndrome specialist information key symptoms enlarged tongue green

Enlarged tongue,
tonsils, and adenoids3

Hunter syndrome specialist information female doctor measuring heartbeat of young boy cartoon

Many of the signs and symptoms of Hunter syndrome overlap with common childhood complaints, but clinical suspicion can be triggered by particular symptom clusters that are unlikely to appear in an unaffected child.1 As it is often the pediatrician who recognizes an underlying problem connecting the seemingly unrelated signs and symptoms that a patient has, increased awareness of MPS II is a critical factor in early diagnosis and referral.1

A newborn infant who has Hunter syndrome may appear unaffected in the first months and years of life, but between the ages of 2 and 4, physical abnormalities begin to emerge and, in some cases, cognitive impairment may develop.2

Hunter syndrome specialist information green table prevalence and age

Other symptoms that may be seen by age 2–4:

Hunter syndrome other symptoms respiratory problems green lungs

Respiratory problems, including noisy breathing
and snoring1

Hunter syndrome other symptoms chronic rhinorrhea green nose


Hunter syndrome other symptoms recurrent diarrhea green gut

Recurrent watery

Hunter syndrome other symptoms developmental delay green brain

Developmental delay and/or speech delay1*

*Neuropathic type only


After a confirmed diagnosis of MPS II, the pediatrician has a key role to play in the multidisciplinary management of the patient.1 Patients and caregivers are often overwhelmed with the number of different pediatric specialists that are involved in their care to manage their specific symptoms.1 The pediatrician can help facilitate care among these many specialists and provide a consistent medical home for the patient.1

1. Burton BK, Giugliani R. Eur J Pediatr. 2012;171(4):631-639. 2. Martin R et al. Pediatrics. 2008;121(2):e377-e386. 3. Muenzer J et al. Pediatrics. 2009;124(6):e1228-e1239. 4. Wraith JE et al. Genet Med. 2008;10(7):508-516. 5. Mendelsohn NJ et al. Genet Med. 2010;12(12):816-822. 6. Keilmann A et al. Inherit Metab Dis. 2012;35(2):343-353.


Hunter syndrome is a
progressive genetic disease

If you suspect Hunter syndrome, refer your patient to a metabolic geneticist for an accurate diagnosis.